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ONTOLOGY REPORT - ANNOTATIONS


Term:Schwartz-Lelek Syndrome
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Accession:DOID:9007292 term browser browse the term
Synonyms:exact_synonym: craniometadiaphyseal dysplasia;   genetic craniotubular bone dysplasias and hyperostoses
 primary_id: MESH:C537519
 alt_id: OMIM:269300;   RDO:0003374
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Schwartz-Lelek Syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Gja1 gap junction protein, alpha 1 JBrowse link 20 37,876,650 37,889,097 RGD:8662399

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    syndrome 5224
      Schwartz-Lelek Syndrome 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      Skin and Connective Tissue Diseases 4232
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                osteosclerosis 44
                  craniometaphyseal dysplasia 6
                    Schwartz-Lelek Syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.